Paralogue Annotation for RYR2 residue 1383

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1383
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1383

No paralogue variants have been mapped to residue 1383 for RYR2.

RYR2	PEFNNHK--------------DYAQEKP-S>R<--LKQRFLLRRTKPDYSTSHSARLTEDVLA	1411
RYR1	APGGTPQAGGEAQPARAENEKDATTEKNKK>R<GFLFKAKKVAMMTQPPATPTLPRLPHDVVP	1416
RYR3	------------------------------>-<--------------------SPCLDSEAFQ	1312
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1383H	c.4148G>A	Putative Benign			SIFT: Polyphen: